Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry

Abstract

Neonatal screening in Colombia has been carried out since 2000. The problem that most concerns is the absence of expanded screening. To stablish reference values for amino acids and acylcarnitines, in order to provide information to guide the implementation of expanded screening. Samples collected on Whatman 903 filter paper from 10284 newborns were processed by Tandem Mass Spectrometry System (Waters -Perkin Elmer), and the NeoBase™ non-derivatized MS/MS kit (PerkinElmer), which contains controls for 11 amino acids, and 31 acylcarnitine species. For each analyte the upper limit was set above the 99th percentile, while the lower limit was set below the 1st percentile. Comparison of full-term newborn amino acid concentrations with premature ones showed no significant differences in three of them: Glycine p-0.99574, Ornithine p=0.35274, Phenylalanine p=0.13499, neither in levels of 11 of the 31 acylcarnitines. Comparison of analyte concentrations in this study with previous reports showed significant differences for all amino acids and acylcarnitines (<0.05). Experience was gained in the pre-analytic stage of expanded screening and reference values were established, for the implementation of neonatal screening program in the country.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Colombia —A 2019 law formalized an expansion of the national NBS program from CH to seven conditions and included EHDI and vision screening [ 1182 , 1183 , 1184 , 1185 ]. Efforts to continue expanding DBS screening have included developing MS/MS cutoff values and reviewing experiences and policy issues with MPS and other LSDs [ 1186 , 1187 , 1188 , 1189 ]. Continued interest in CCHD screening has included cost-effectiveness studies as well as a 14-site collaboration with the Nicklaus Children’s Hospital (Miami, Florida USA) [ 1190 , 1191 ].…”

“…Colombia-A 2019 law formalized an expansion of the national NBS program from CH to seven conditions and included EHDI and vision screening [1182][1183][1184][1185]. Efforts to continue expanding DBS screening have included developing MS/MS cutoff values and reviewing experiences and policy issues with MPS and other LSDs [1186][1187][1188][1189].…”